title: Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation and New ADAMTS 13 Mutation in a Tunisian Child.
abstract: BACKGROUND
  Congenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties.
  
  
  METHODS
  A 2 year old Tunisian child presented with chronic thrombopenic purpura which failed to respond to corticosteroids. Hemolytic anemia with schistocytes, occurred ten months later, with no previous history of diarrhea or any neurological abnormality. Renal function and coagulation screening tests were normal. The count of platelet improved after fresh frozen infusion (FFP). Extensive investigations revealed a severe deficiency of ADAMTS 13 activity (level< 5%). Gene sequencing identified mutation in exon 18 of ADAMTS 13 gene. Prophylactic regimen with regular infusions of FFP was associated to favorable outcome.
  
  
  CONCLUSIONS
  Early ADAMTS 13 activity testing and gene sequencing associated to precocious plasmatherapy are recommended to reduce morbidity and mortality of congenital TTP.
authors.affiliation: Pediatric A Department-Children's Hospital of Tunis, Faculty of Medicine University of Tunis Elmanar.
authors.forename: A
authors.initials: A
authors.lastname: Borgi
authors.forename: M
authors.initials: M
authors.lastname: Khemiri
authors.forename: A
authors.initials: A
authors.lastname: Veyradier
authors.forename: K
authors.initials: K
authors.lastname: Kazdaghli
authors.forename: S
authors.initials: S
authors.lastname: Barsaoui